To elucidate the genetic architecture of amyotrophic lateral sclerosis (ALS) and find
associated loci, we assembled a custom imputation reference panel from whole-genome-sequenced …

Background Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease
of upper and lower motor neurons, associated with frontotemporal dementia (FTD) in about …

Characterizing genetic influences on DNA methylation (DNAm) provides an opportunity to
understand mechanisms underpinning gene regulation and disease. In the present study, we …

Identifying large expansions of short tandem repeats (STRs), such as those that cause
amyotrophic lateral sclerosis (ALS) and fragile X syndrome, is challenging for short-read whole-…

To identify genetic factors contributing to amyotrophic lateral sclerosis (ALS), we conducted
whole-exome analyses of 1,022 index familial ALS (FALS) cases and 7,315 controls. In a …

Background Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease of motor
neurons that results in progressive weakness and death from respiratory failure, commonly …

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a lifetime risk
of one in 350 people and an unmet need for disease-modifying therapies. We conducted a …

A massive hexanucleotide repeat expansion mutation (HREM) in C9ORF72 has recently been
linked to amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Here we …

A rare variant in TREM2 (p.R47H, rs75932628) was recently reported to increase the risk of
Alzheimer's disease (AD) and, subsequently, other neurodegenerative diseases, ie …

Background C-reactive protein (CRP) is associated with immune, cardiometabolic, and
psychiatric traits and diseases. Yet it is inconclusive whether these associations are causal. …